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Developmental validation of a novel all-in one assay of X chromosomal multi-insertion/deletion loci for forensic genetics.
Sci Rep
December 2024
Department of Forensic Medicine, Guizhou Medical University, Guiyang, 550025, China.
Multi-insertion/deletion polymorphisms (Multi-InDels), as the novel genetic markers, show great potential in forensic research. Whereas, forensic researchers mainly focus on the multi-InDels on the autosomes, which can provide relatively limited information in some complex paternity cases. In this study, a novel X chromosomal multi-InDel multiplex amplification system was designed, containing 22 multi-InDels and one STR locus on the X chromosome.
View Article and Find Full Text PDFWorldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for their profound effects on melanocyte development and auditory functions. This study reports a novel porcupine model exhibiting spontaneous deafness and pigmentation abnormalities reminiscent of human Waardenburg Syndrome Type 2 (WS2: OMIM#193510). Through phenotypic characterization, including coat color, skin, eye morphology, and auditory brainstem response (ABR) assessments, we identified hypopigmentation and complete deafness in mutant porcupines.
View Article and Find Full Text PDFFour SNPs in the untranslated region of the NOTCH2 gene involved in reproductive traits in fertile and anestrum Holstein Friesian cattle.
BMC Vet Res
December 2024
Department of Research, Research and Development Station for Bovine, Arad, Romania.
Background: There are no studies belong NOTCH2 gene polymorphism in relation to reproductive and productive traits in Holstein cattle. The objective of the present study was to investigate the effect of NOTCH2 gene polymorphisms on productive and reproductive performance of fertile and anestrum cattle.
Methods: The cattle were classified into anestrus for 3-12 months postpartum (n = 115, 37.
Upregulation of TLR2 in keratinocytes activates the MAPK pathway and plays a role in the pathogenesis of hidradenitis suppurativa.
J Dermatol Sci
November 2024
Department of Dermatology, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China. Electronic address:
Background: Mutations in gamma-secretase complex (GSC) genes are associated with hidradenitis suppurativa (HS), and toll-like receptor (TLR) 2 is elevated in HS lesions. However, it remains unclear whether TLR2 is upregulated in the skin lesions of patients with HS with GSC gene variants, and the role of its upregulation in the pathogenesis of this disease are unknown.
Objective: To investigate the role of TLR2 upregulation in NCSTN and PSENEN knockdown keratinocytes.
Loss-of-function SLC25A20 mutation causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability.
Gene
December 2024
Department of Medical Genetics/Experimental Education/Administration Center, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, China; Guangdong Provincial Key Laboratory of Single Cell Technology and Application, Guangzhou 510515, China; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou 510280, China. Electronic address:
Background/aim: Autosomal-recessive carnitine-acylcarnitine translocase deficiency (CACTD) is a rare disorder of long-chain fatty acid oxidation caused by variants in the SLC25A20 gene. Under fasting conditions, most newborns with severe CACTD experience sudden cardiac arrest and hypotonia, often leading to premature death due to rapid disease progression. Understanding of genetic factors and pathogenic mechanisms in CACTD is essential for its diagnosis, treatment, and prevention.
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